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Flashcards in Endocrinology Deck (138):
0

21 hydroxylase deficiency

Increased 17oh progesterone, virilized female, aldosterone deficiency salt wasting. Treat with glucocorticoids and mineralocorticoud a

2

11 hydroxylase deficiency

Elevated deoxycorrisol and deoxycorricosterone. Virilization of female. Elevate doc causes sodium retention. Treat with glucocorticoid

3

What should you order to work up short stature?

IGF1, Bone Age, karyotype in females, CMP, ESR, CBC, TSH

4

Cushings disease

ACTH secreting anterior pituitary tumor

5

What is the relationship between seratonin and cortisol

Seratonin stimulates the release of CRH

6

Relationship of dopamine and prolactin

Prolactin is under tonic hypothalamic inhibition by dopamine sent down the pituitary stalk. Anti-DA drugs cause increased prolactin

7

Relationship of TRH and prolactin

Both increased by anti DA drugs. Prolactin is also increased in hypothyroidism

8

Hall-Pallister Syndrome

Absence of the pituitary gland and associated with hypothalamic hamartoblastoma, polydactyly, nail dysplasia, bifid epiglottis, imporferate anus, heart, lung, kidney abnormalities.

9

Rieger Syndrome

Deficiency of anterior pit hormones, coloboma, glaucoma, kidney, GI, umbilical anomalies.

10

Septic optic dysplasia

abnormailtiy of the optic nerve, agenesis or hypoplasia of the septum pellucidum or corpus collusom, often hypothalamic insufficiency. 2/2 abnormality in transcription factor HESX1

11

What is a solitary maxillary central incisor a sign of?

High likelihood of GH deficiency

12

Laron syndrome

Normal amount of GH, but defective GH receptors. Low levels of IGF -1. Treat with IGF -1

13

Constitutional growth delay

A variant of normal growth. Normal growth during the first 4-12 months of life, but then growth rate slows to the height and weight are less than the 3rd percentile. By 2-3 years of age, growth resumes at >5cm/year. GH studies normal, bone age is delayed and mirrors height age instead of chronologic age. Kids usually reach normal adult height, may have delayed puberty.

14

How is genetic short stature different from constitutional growth delay?

Has normal bone age for chronologic age, as opposed to delayed bone age seen in constitional growth delay.

15

What three factors differentiate genetic short stature, constitutional growth delay and GH deficiency?

family history, growth velocity, bone age.

16

Signs of hormone deficiency

decrease in growth velocity, delayed bone age, maybe fam history

17

What are side offects of GH treatment?

SCFE, psuedotumor cerebri, transient carbohydrate intolerance, transient hypothyroidism, scoliosis

18

Mid -parental hieght calculation

for boys = {mom hieght + dad height + 13 cm} / 2
For girls = {mom height + dad height - 13cm} /2

19

What studies should you order if you suspect DI?

serum osm, UA and urine osm. ADH level. Can do a water deprivation test, or DDAVP test

20

Treatment of central DI

DDAVP, intranasally or orally

21

Treatment of nephrogenic DI

Low sodium diet to reduce obligatory water loss from kidney. Thiazides reduce urine output, indomethacin.

22

Abnormal causes of tall stature

Marfan, homecysteinuria, Klinefelter

23

Marfan genetics and eye findings

AD, upward subluxation of lens

24

Homocystinuria

Intellectual disability, marfanoid habitus, downward subluxation of lens

25

Sotos syndrome

Born above the 90th percentile and then grow rapidly in the 1st year of life to >97th percentile until age 4-5 then returns to normal. Puberty normal or a little early. Patients have big hands and feet, clumsy and un coordinated. May have intellecutal disability. GH levels are normal. Long narrow face, pointed chin.

26

Most common anterior pit tumor in adolescents

prolactinoma

27

Treatment for prolactinoma

bromocriptine (DA agonist). or surgery

28

Beckwith Wiedemann syndrome

Excess IGF -2 2/2 lack of demthylation at 11p15. Fetal overgrowth syndrome (including pancreas). Macroglossia, HSM, excess insulin. Increased risk of hepatoblastoma, WT

29

Screening needed in patients with Beckwith Weidemann

Abdominal US q3mo until 8 yrs, afp q6 weeks until age 6

30

What is the first sign of puberty?

breast development and increased testes size

31

What hormone controls closure of epiphyseal plates?

Estrogen

32

Average length of time from initial sign of pubery to menarche?

2-2.5 years

33

When does peak height velocity occurs?

breast stage 2-3, always precedes menarche

34

How much more growth do females have after menarche?

about 3 more inches

35

At what Tanner stage does menarche occur

Tanner stage 4

36

normal male puberty

ages 9-14

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normal female puberty

ages 8-13

38

Precocious puberty ages

< 9 males

39

Most common brain lesion that causes true precocious puberty

hypothalamic hamartoma - contains ectopic neural tissue that contains GNRH secretory neurons and functions as a GNRH pulse generator

40

Treatment of gonadotropin dependent precocious puberty

leurpolide - a GnRH analog that interrupts the pulsatile nature

41

Mccune Albright Syndrome

mutation in cAMP formation therefore any receptors that have cAMP dependent mech are affected. Therefore TSH, FSH, LH, ACTH affected. Get oversecretion of hormones. Cafe au lait spots and fibrous dysplasia of skeletal system.

42

Definition of premature thelarche

isolated breast development in first 2 years of life. growth, bone maturation and genitals are normal

43

Definition of premature adrenarche

isolated pubic hair or other androgen effects before 8 in girls before 9 in boys.

44

what percent of boys with enlarged testes have a brain tumor?

25-75%. Premature isolated testelarche does not exist! This is precocious puberty

45

Pubertal gynecomastia occurs during which tanner stages?

2-4

46

When do boys with gynecomastia need further workup?

When occurs in atypical tanner stage (1 or 5). atypical age 16, abnormal pubertal progression, patients with macrogyneco, patients requesting surgery

47

What ingestions can cause premature thelarche and psuedopuberty?

estrogen creams, OCPS, excessive soy, tea tree oil, lavender

48

What causes increased TBG thus increased total T4?

estrogens, pregnancy, tamoxifen, narcotics, biliary cirrhosis, hepatitis

49

What causes decreased TBG thus low total T4

androgens, glucocorticoids, nephrotic syndrome

50

What drugs blcok peripheral conversion of T4 to T3?

propranolol, glucocorticoids, PTU, amiodarone

51

Does a thyroglossal duct cyst move with swallowing?

Yes

52

Most common cause of congenital hypothyroidism

thyroid dysgenesis

53

Relationship of hypothyroidism and jaundice

low Thyroxine causes slowed conjugation of bilirubin

54

signs and symptoms of congenital hypothyroidism

enlarged posterior fontanelle, delayed dentition, large tongue, myxedema, devo delay

55

What percent of patients with DM1 have thyroid disease?

10-15%

56

What antibodies are found in hashimotos?

Antithyroglobulin, Antithyroperoxidase

57

Drug treatment of choice for hyperthyroidism in peds

MTX over PTU (risk of hepatotox and death)

58

What percent of thyroid nodules in peds are malignant?

25% Much less in adults

59

MEN 2a

Medullary thyroid cancer, pheochromocytoma, hyperparathyroid

60

MEN 2b

Medullary thyroid cancer, pheochromocytoma, and marfanoid habitus and digestive neurofibromas

61

Most common cause of pediatric thyroid cancer?

Follicular carcinoma

62

What is the first step of workup in find a thyroid nodule?

Check TSH, if suppressed do thyroid uptake scane to look for HOT nodule, if elevated or normal do an ultrasound to confirm the presence

63

What is the best tumor marker to follow for thyroid cancer?

Thyroglobulin

64

Actions of PTH

causes release of bone calcium stores, decreases renal excretion of calcium, but increases Phos excretion, increases activity of hydroxlase that converts vitamin D

65

Actions of 1,25-OH D3

Increases Ca and PO4 absorption from gut, Increases Ca resorption from bone and increases Ca and Phos reabsorption from kidneys

66

High ca and high pos are due to

high vitamin d levels

67

High ca and low phos are due to

high PTH levels

68

Low Ca and Low phos are due to

Low vitamin D levels

69

Low Ca and high phos are due to

low PTH levels

70

What does calcitonin do?

Slows down osteoclasts which causes decreased bone resorption and increases renal calcium clearance. DECREASES calcium

71

Effect of glucocorticoids on bone

help maintain osteoblasts function, but large amounts decrease the bonematrix and cause calciuria

72

Effect of estrogen on bone

decreases bone resorption and increases osteoblastic activity

73

APS1

Autoimmune hypoparathyroidism, Addison disease and chronic mucocut candidiasis. AR. MAy also have hair loss, vitiligo, hepatitis

74

APS 2

type 1 DM, thyroid disease, Addisons

75

What endo disorder is associated with basal ganglia calcification

hypoparathyroidism

76

Psuedohypoparathyroidism

resistance to PTH; multiple forms exist.

77

What are radiologic signs of rickets?

irregular calcification, cupping of metaphysis, fraying and widening of growth plate, diffuse osteomalacia

78

What is hypophosphatemic rickets

Renal disorder, X linked. causes over active FGF 23 which causes phosphate wasting. Extremely low serum phos, high urine phos, elevated alk phos and normal PTH, normal vita D

79

MEN 1

pituitary, parathyroid and pancreatic hyperplasia or neoplasia

80

3 zones of adrenal cortex

Glomerulosa (mineralocorticoids), fasciculata (cortisol), reticularis (androgens)

81

What is the best test to diagnose someone with Cushing's disease

24 hour urine cortisol

82

Adrenoleukodystrophy genetic pattern

X linked

83

Adrenoleukodystrophy underlying issue

high levels of very long chain fatty acids - peroxisome defect

84

Clinical presentation of Adrenoleukodystrophy

Degenerative neurologic disorder that begins in childhood or adolescense, progresses to severe dementia, loss of vision, hearing, speech, gait

85

What is the most common form of CAH?

21 hydroxylase deficiency. Elevated 17- hydroxyprogesterone

86

Characteristics of 21 hydroxylase CAH

Most infants are virilized and salt losers (25% do not waste salt). will have fast post-natal growth and precocious puberty.

87

Elevated metabolite in 11B hydroxylase deficiency

11-deoxycortisol

88

Clinical signs of 11B hydroxylase deficiency

No salt wasting, instead have hypertension because one of the metabolites Deoxycorticosterone has mineralocorticoid activity . Virilized.

89

Clinical signs of 3B hydroxysteroid

Lack cortisol, aldosterone and testosterone, but have increase DHEA. Salt wasting but mild virilization, boys with hypospadias, shortly after birth get axillary and pubic hair.

90

Treatment of CAH

hydrocortisone to treat adrenal insufficency and prevent excessive production of androgens. If have salt wasting give florinef and salt.

91

Most common cause of Cushing's syndrome in infants

Adrenocortical tumor

92

How does cushing syndrome affect growth?

Obesity with poor height velocity.

93

When are cortisol levels the highest?

8am, decrease by 50% by 8pm

94

When do you check cortisol when screening for adrenal insuff vs Cushings?

For insuff want to check AM cortisol, but for cushings, no diurnal pattern thus can check mid day.

95

What do you test to diagnose a pheo?

Urinary VMA and metanephrines

96

When removing pheochromocytoma, what must be given

alpha and beta blockers, lots of fluids.

97

What are genetics of noonan syndrome?

AD. Variable expression. Mapped to chromosome 12q

98

Heart defect of noonan syndrome

Pulmonic stenosis

99

Clinical manifestations of noonan syndrome

Short stature, neck webbing, pectins excavatum, hypertelorism, downward slanting palpebral fissures, intellectual disability in 25%, hearing loss

100

Karyotype of Klinefelter syndrome

47XXY

101

Clinical signs of Klinefelter syndrome

Intellectual disability, psych issues , small testes, gynecomastia, long legs, increased brca risk

102

Genetics of kallman syndrome

X linked

103

Clinical features of kallman syndrome

Anosmia and hypogonadotrophic hypogonadism

104

What tanner stage should boys be at if they have gynecomastia ?

Tanner 2-4. If tanner 1 or 5 need for eval

105

Incidence of Turner syndrome

1/2000 live births. Risk does not increase with maternal age. 3% of conceptions are x0 but 99% of these spontaneously abort

106

What r turners kidney findings?

Pelvic kidney, horseshoe kidney, double collecting sys, one kidney

107

Diagnostic criteria of PCOS

2 of following : 1. Irregular anovulatory cycles 2. Signs of hyperandrogenism chemical or physical 3. Poly cystic ovaries

108

Side Effect of danazol on fetus

Ambiguous genitalia

109

What is Denys drash syndrome?

Occurs in 46xy associated with nephropathy, ambiguous genitalia (formed mullerian ducts), WT

110

5 a reductase deficiency

Decreased production of DHT which is necessary for development of male external genitalia. Infants present wih small penis, bifid scrotum, blind vaginal pouch Usually characterized as female at birth and penis enlarges at puberty

111

Androgen insensitivity syndrome

46xy, x linked , have testes and high/normal testosterone, but have defect in androgen receptor. Can be completely female appearing but with blind vaginal pouch

112

Somogyi Effect

hypoglycemic episodes that may manifest as late nocturnal or early morning sweating, night terror and headaches 2/2 hypoglycemia followed by hyperglycemia

113

After how many years of Type 1 DM do you start screening retinopathy and nephropathy?

5 years

114

What is MODY?

AD type of diabetes, onset 9-25 years. Respond to sulfonureas

115

At what age do you need to work up primary amenorrhea?

Age 15. If havent had period by age 15 need to work it up.

116

At what osmolality does thirst kick in?

295mOsm/L

117

What abnormalities is an ectopic posterior pituitary associated with?

Usually seen as an ectopic bright spot at the base of the third ventricle. Anterior pit problems because infundibulum often does not migrate appropriately. Can have isolated GH def or panhypopit

118

What is cerebral salt wasting and how does it differ from SIADH?

due to hypersecretion of atrial natriuretic peptide. Seen in patients with CNS disorders. Hyponatremic, hypovolemic, very high urine sodium >150, high urine output, low ADH (In contrast SIADH is euvolemic, slightly high urine sodium >40, low urine output, high ADH)

119

Treatment of cerebral salt wasting

IV fluid replacement and salt replacement

120

Men 2a

hyperPTH, medullary thyroid CA, pheo

121

Men 2b

medullary thyroid CA, pheo, marfanoid, mucosal neuromas

122

What is the Carney complex?

an AD disease with blue nevi, cardiac and skin myxomas, sexual precocity, primary pigmented adrenocortical disease. Associated with thyroid and pituitary tumors

123

Liddle syndrome

AD disorder with hypertension and hypokalemia. Renin and aldo are low

124

Laurence-Moon-Biedl/Bardet-Beiedl syndrome

Retinitis pigmentosa, obesity, intellectual disability, polydactlyl, genital hypoplasia, hypogonadism

125

Effect of ketoconazole

directly inhibits testosterone synthesis. Can cause gynecomastia

126

In a girl >16yo with primary amenorrhea, which is the most helpful study?

karyotype

127

Perrault syndrome

XX gonadal dysgenesis with SNHL

128

What infectious disease causes increased risk of type 1 DM in kids?

congenital rubella

129

Somogyi vs dawn effect

Both have early morning hyperglycemia, but Somogyi effect is characterized by late nocturnal/early morning hypoglycemia, followed by hyperglycemia, glucosuria, ketosuria, ketosis - thought 2/2 too much insulin thus need to reduce the dose. Important to distinguish from Dawn effect - elevated glucose bc insulin is wearing off. Increase insulin.

130

When do you start screening in DM 1?

5 years after diagnosis - microalbumin, optho (>age 10), lipids (>age10), celiac, thyroid

131

how is prenatal screening for CAH performed?

molecular genetic testing of fetal cells, not amniotic levels of 17 OH progesterone

132

Which genetic condition is associated with hypercalcemia

Williams syndrome

133

what can cause delayed eruption of teeth?

vitamin d deficiency

134

Tell me about vitamin D resistant rickets

Type 1 - cannot produce 1,25 - OH vita D. Type 2 - resistant to 1,25 OH vita D. Both are AR

135

How is hypophosphatemic rickets inherited?

X linked DOMINANT

136

Which CAH has virilization of both XX and XY?

3B HSD - DHEA builds up which is too weak to fully virilize males, but strong enough to virilize females

137

The risk of a solitary thyroid nodule in a child is malignant is approximately:

33%

138

What do you treat persistent hyperinsulinemic hypoglycemia of infancy with?

diazoxide, octreotide a distant second